Endocrinology Book


Disorders of Energy Metabolism

Aka: Disorders of Energy Metabolism, Energy Metabolism Disorders, Glycogen Storage Disease, Disorder of Carbohydrate Metabolism, Lipid Metabolism Disorders
  1. See Also
    1. Inborn Errors of Metabolism
    2. Lysosomal Storage Disease
    3. Inborn Error of Small Molecule Metabolism
  2. Types
    1. Oxidation defects
    2. Disorders of lipid utilization, Fatty Acid mobilization and metabolism
      1. Medium-chain-acyl-CoA Dehydrogenase Deficiency
      2. Carnitine palmityltransferase deficiency (deficiency of the mitochondrial translocation)
    3. Disorders of Gluconeogenesis and Glycolysis
      1. Pyruvate Dehydrogenase Deficiency
    4. Respiratory Chain Disorders (associated with Lactic Acidosis)
    5. Glycogen Storage Diseases
      1. Type 1: von Gierke's Disease
      2. Type 2: Pompe's Disease
      3. Type 3: Forbes Disease
      4. Type 4: Andersen's Disease
      5. Type 5: McArdle's Disease
      6. Type 6: Hers Disease
      7. Type 7: Tarui's Disease

Glycogen Storage Disease (C0017919)

Definition (NCI) An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
Definition (CSP) any of a group of metabolic disorders characterized by excessive storage of glycogen.
Definition (MSH) A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Concepts Disease or Syndrome (T047)
MSH D006008
ICD9 271.0
ICD10 E74.0, E74.00
SnomedCT 190744005, 267498002, 154738008, 29633007
English Diseases, Glycogen Storage, Glycogen Storage Disease, Glycogen Storage Diseases, Glycogenoses, Glycogenosis, Storage Disease, Glycogen, Storage Diseases, Glycogen, Disease, Glycogen Storage, Glycogenosis NOS, GLYCOGEN STORAGE DIS, glycogen storage disease, glycogen storage disease (diagnosis), Glycogen storage disorder NOS, Glycogen storage disease, unspecified, Glycogen Storage Disease [Disease/Finding], disorders glycogen storage, glycogen storage disorder, glycogen storage diseases, disease glycogen storage, diseases glycogen storage, glycogenoses, Glycogenosis NOS (disorder), Glycogen storage disorder, Glycogen storage disease, GSD - Glycogen storage disease, Glycogen storage disease (disorder), glycogenosis, Gierke, glycogen storage; disease, liver; disease, glycogen storage (etiology), liver; disease, glycogen storage (manifestation), storage disease; glycogen, thesaurismosis; glycogen, Glycogen storage disease, NOS, Glycogenosis, NOS
Dutch glycogeenopslagstoornis NAO, glycogenosen, glycogenose, glycogeen; stapelingsziekte, lever; aandoening, glycogeenstapeling, stapelingsziekte; glycogeen, thesaurismose; glycogeen, glycogeenopslagstoornis, Glucogenose, Glycogeenstapelingsziekte, Ziekte, glycogeenstapelings-
French Glycogénoses, Glycogénose SAI, Glycogénose, Maladie glycogénique
German Glykogenosen, Glykogenspeicherstoerung NNB, Glykogenspeicherkrankheit [Glykogenose], Glykogenspeicherstoerung, Glykogenose, Glykogenspeicherkrankheit
Italian Glicogenosi NAS, Malattia da accumulo di glicogeno, Glicogenosi
Portuguese Glicogenoses, Glicogenose NE, Doença do Armazenamento de Glicogênio, Glicogenose, Doença de Depósito de Glicogênio
Spanish Trastorno del almacenamiento del glucógeno NEOM, Glicogenosis, glucogenosis, SAI, glucogenosis, SAI (trastorno), enfermedad por almacenamiento de glucógeno, glucogenosis (trastorno), glucogenosis, Trastorno del almacenamiento del glucógeno, Enfermedad del Almacenamiento de Glucógeno, Glucogenosis
Japanese 糖原病NOS, トウゲンビョウNOS, トウゲンビョウ, 糖原病, グリコーゲン蓄積症, 糖原症, 糖原貯蔵症, グリコゲン貯蔵病, グリコーゲン病
Swedish Glykogenupplagringssjukdom
Finnish Glykogenoosi
Czech Porucha ukládání glykogenu, Glykogenóza, Glykogenóza NOS, Glykogenózy, glykogen - nemoc z ukládání, glykogenóza
Korean 당원 축적병
Polish Choroby spichrzania glikogenu, Glikogenozy
Hungarian Glycogen tárolás betegség, Glycogenosis, Glycogen tárolás betegség k.m.n., ((glikogénraktározási betegségek))
Norwegian Glykogenlagringssykdom, Glykogenose
Derived from the NIH UMLS (Unified Medical Language System)

Disorder of carbohydrate metabolism (C0149670)

Definition (NCI) An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance.
Concepts Disease or Syndrome (T047)
ICD10 E74.9
SnomedCT 20957000
English Disord of carbohydrate metabol, Disorder of carbohydrate metabolism, unspecified, carbohydrate metabolism disorder, disorders of carbohydrate metabolism, carbohydrate disorders metabolism, disorder of carbohydrate metabolism, Carbohydrate Metabolism Disorder, Carbohydrates--Metabolism--Disorders, Carbohydrate metabolism disorder, Disorder of carbohydrate metabolism, Disorder of carbohydrate metabolism (disorder), carbohydrate; metabolic disorder, disorder; carbohydrate metabolism, metabolic disorder; carbohydrate, Disorder of carbohydrate metabolism, NOS, Disorder;carbohydrate metabol
Italian Disturbo del metabolismo dei carboidrati
Japanese 炭水化物代謝障害, タンスイカブツタイシャショウガイ
German Stoerung des Kohlenhydratstoffwechsels, nicht naeher bezeichnet, Stoerung des Kohlehydratstoffwechsels
Czech Porucha metabolismu sacharidů
Korean 상세불명의 탄수화물 대사 장애
Hungarian Szénhidrát metabolizmus betegség
Dutch koolhydraat; metabole stoornis, stofwisselingsstoornis; koolhydraat, stoornis; koolhydraatstofwisseling, Stofwisselingsstoornis van koolhydraten, niet gespecificeerd, koolhydraatmetabolismestoornis
Spanish trastorno del metabolismo de los carbohidratos (trastorno), trastorno del metabolismo de los carbohidratos, trastorno del metabolismo de los glúcidos, trastorno del metabolismo de los hidratos de carbono, Alteración del metabolismo de los hidratos de carbono
Portuguese Anomalia do metabolismos dos hidratos de carbono
French Trouble du métabolisme des hydrates de carbone
Derived from the NIH UMLS (Unified Medical Language System)

Lipid Metabolism Disorders (C0154251)

Definition (NCI) An inherited metabolic disorder that affects the metabolism of the lipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
Definition (CSP) condition in which there is a deviation or interruption in the processing of lipids in the body: synthesis, absorption, transport, storage, and utilization.
Definition (MSH) Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.
Concepts Disease or Syndrome (T047)
MSH D052439
ICD9 272.9, 272
SnomedCT 190771005, 190806008, 154739000, 267499005, 267431006
English Unspecified disorder of lipoid metabolism, FAT DISORDER, LIPID METABOLISM DISORDER NOS, Disorder of lipoid metabolism NOS, Lipoid metabolism disorder NOS, Metabolism Disorder, Lipid, Metabolism Disorders, Lipid, lipid disorder, lipoid metabolism disorder (diagnosis), lipoid metabolism disorder, disorders of lipid metabolism, Fat disorder, Disorders of lipid metabolism, Lipid metabolism disorder NOS, Unspecified disorders of lipoid metabolism, Lipoid metabol dis NOS, Lipid Metabolism Disorders [Disease/Finding], disorders fat, lipid disorders, Disease;lipid metabolism, Disorder;lipid metabolism, fat disorder, lipid metabolism disorders, disorder lipid metabolism, disorders lipid, disorders fats, disorders lipids, Lipid metabolism disorders, Lipid Metabolism Disorder, Lipid Metabolism Disorders, Disorder of lipoid metabolism NOS (disorder), Lipid metabol. disorder, Lipids--Metabolism--Disorders, Fatty Acid Metabolism Disorder, Lipid Storage Disease, Disorder of Fatty Acid Metabolism, Sphingolipidosis, Lipid metabolism disorder, Disorders of lipoid metabolism, Disorder of lipid metabolism, Disorder of lipid metabolism (disorder), Lipid disorder, disorder; lipid metabolism, lipid; metabolic disorder, metabolic disorder; lipid, lipid metabolism disorder, disorder of lipid metabolism, lipid metabolism disease
Italian Disturbi del metabolismo lipidico, Disturbo del metabolismo lipidico, Disturbi del metabolismo lipoideo, Patologia adiposa, Disturbo del metabolismo lipidico NAS, Disturbi non specificati del metabolismo dei lipoidi, Disturbi del metabolismo dei lipidi
Dutch stoornissen van lipoïdmetabolisme, vetstoornis, niet-gespecificeerde stoornis van lipoïdmetabolisme, lipidemetabolismestoornis NAO, niet-gespecificeerde stoornissen van lipoïdmetabolisme, Vetstofwisselingsstoornis, lipide; metabole stoornis, stofwisselingsstoornis; lipide, stoornis; lipidenmetabolisme, lipidemetabolismestoornis, lipidenmetabolismestoornissen
French Troubles non précisés du métabolisme des lipoïdes, Trouble lipidique, Troubles du métabolisme des lipoïdes, Trouble du métabolisme lipidique SAI, Trouble du métabolisme des lipoïdes non précisé, Troubles du métabolisme des lipides, Troubles du métabolisme lipidique, ANOMALIE DU TISSU GRAISSEUX, TROUBLE DU METABOL. LIPIDIQUE SAI, Trouble du métabolisme lipidique
German Stoerungen des Lipoidstoffwechsels, Fettstoffwechselerkrankungen, Fettstoffwechselstoerung NNB, unspezifische Stoerung des Lipoidstoffwechsels, unspezifische Stoerungen des Lipoidstoffwechsels, Lipidstoffwechselstörungen, FETT VERAENDERT, FETTSTOFFWECHSELSTOERUNG, Fettstoffwechselstoerungen, Lipidstoffwechselstoerung
Portuguese Alteração do metabolismo dos lípidos NE, Alterações NE do metabolismo lipóide, Alteração das gorduras, Alteração NE do metabolismo lipóide, Alterações do metabolismo lipóide, Transtornos do Metabolismo dos Lipídeos, ALTERACAO DO METABOLISMO LIPIDICO, DISTURB. DO METABOLISMO LIPIDICO, Distúrbios do Metabolismo dos Lipídeos, Transtornos Metabólicos dos Lipídeos, Distúrbios do Metabolismo Lipídico, Distúrbios Metabólicos dos Lipídeos, Distúrbios do Metabolismo dos Lipídios, Transtornos do Metabolismo Lipídico, Alteração de metabolismo dos lípidos, Alteração do metabolismo dos lípidos
Spanish Trastornos no especificados del metabolismo lipoideo, Trastornos del metabolismo lipoideo, Trastorno de las grasas, Trastorno no especificado del metabolismo lipoideo, Trastorno del metabolismo de los lipidos NEOM, Trastornos del Metabolismo de los Lípidos, trastorno de metabolismo de lípidico, GRASA, TRASTORNO, LIPIDOS, TRASTORNOS DEL METABOLIS, trastorno del metabolismo lipídico, SAI (trastorno), trastorno del metabolismo lipídico, SAI, Trastornos Metabólicos de los Lípidos, Trastornos del Metabolismo Lipídico, Desórdenes Metabólicos de los Lípidos, Trastorno del metabolismo de los lípidos, Trastornos del metabolismo de los lípidos, trastorno de metabolismo de lípidico (trastorno), trastorno del metabolismo lipídico, trastornos de metabolismo lipoideo, trastorno del metabolismo lípidico (trastorno), trastorno del metabolismo lípidico
Japanese 脂質代謝障害NOS, 脂質代謝異常, 脂質代謝障害, 脂質代謝障害、詳細不明, シシツタイシャショウガイ, シシツタイシャショウガイNOS, シシツタイシャイジョウ, シシツタイシャショウガイショウサイフメイ
Swedish Fettomsättningsrubbningar
Finnish Lipidiaineenvaihdunnan häiriöt
Czech metabolismus lipidů - poruchy, Poruchy metabolismu tuků, Porucha lipidového metabolismu NOS, Blíže neurčená porucha lipidového metabolismu, Porucha lipidového metabolismu, Neurčené poruchy lipidového metabolismu, Poruchy lipidového metabolismu, Porucha metabolismu tuků, lipidy - poruchy metabolismu, poruchy metabolismu lipidů, poruchy lipidového metabolizmu, poruchy metabolizmu lipidů
Polish Zaburzenia metabolizmu lipidów, Zaburzenia przemiany lipidów
Hungarian Lipid metabolizmus betegségei, Lipid metabolizmus betegség k.m.n., Lipoid metabolizmus nem meghatározott betegsége, Lipid metabolizmus betegség, Lipoid metabolizmus betegségei, Zsír rendellenesség, Lipoid metabolizmus nem meghatározott betegségei
Norwegian Fettstoffskifteforstyrrelser
Derived from the NIH UMLS (Unified Medical Language System)

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